Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 strong 1.000 1 0 2019 2019
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 strong 1.000 2 0 2012 2015
Entrez Id: 137492
Gene Symbol: VPS37A
VPS37A
VPS37A subunit of ESCRT-I 0.656 0.577 6.8E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.500 None 1.000 3 0 2011 2018
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 None 1.000 2 0 2005 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2014 2014
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2017 2017
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
THAP domain containing 1 0.644 0.462 0.80
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.600 None 0.964 1 0 1999 2019
Entrez Id: 6821
Gene Symbol: SUOX
SUOX
sulfite oxidase 0.638 0.615 9.4E-07
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 limited 0 0
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2
succinate-CoA ligase ADP-forming subunit beta 0.566 0.654 2.3E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 None 1.000 0 0 2007 2009
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
succinate dehydrogenase complex assembly factor 1 0.656 0.462 8.7E-02
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2013 2013
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
solute carrier family 46 member 1 0.606 0.731 2.2E-02
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.300 limited 0 0
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2
solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 strong 1.000 1 0 2014 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.450 None 1.000 3 0 2000 2018
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.410 None 1.000 0 0 2012 2012
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.686 0.385 3.9E-06
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.620 None 1.000 3 0 2006 2018
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2010 2010
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
ribonuclease H2 subunit C 0.590 0.731 5.5E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
ribonuclease H2 subunit B 0.595 0.615 3.3E-09
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.592 0.692 4.2E-03
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2006 2006
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 2 0 1998 2000
Entrez Id: 8050
Gene Symbol: PDHX
PDHX
pyruvate dehydrogenase complex component X 0.595 0.692 9.7E-05
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 limited 1.000 1 0 2015 2015
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
PTEN induced kinase 1 0.516 0.769 1.9E-10
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.420 strong 1.000 1 0 2004 2015
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
proteolipid protein 1 0.543 0.769 0.93
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.400 None 1.000 1 0 2000 2000
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
protein activator of interferon induced protein kinase EIF2AK2 0.579 0.615 0.42
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype 0.600 None 1.000 3 0 2008 2018